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https://www.readbyqxmd.com/read/28329545/darier-white-disease
#1
Mitalee P Christman, Evan Reider, Randie H Kim, Nooshin Brinster, Elisa Femia, Miriam Keltz Pomeranz
We present a 58-year-old woman with bipolardisorder and with a longstanding history of yellowbrown,hyperkeratotic papules in a seborrheicdistribution and nail changes. Her father andpaternal grandmother had similar eruptions and alsohad psychiatric disease. Histopathologic examinationshowed acantholysis and dyskeratosis, which wasconsistent with Darier-White disease. Darier-Whitedisease is a rare, hereditary disorder that is inheritedin an autosomal dominant manner and that usuallypresents in adolescence or early adulthood dueto mutations in the SERCA2 calcium pump...
December 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/28324693/cortical-complexity-in-bipolar-disorder-applying-a-spherical-harmonics-approach
#2
Igor Nenadic, Rachel A Yotter, Maren Dietzek, Kerstin Langbein, Heinrich Sauer, Christian Gaser
Recent studies using surface-based morphometry of structural magnetic resonance imaging data have suggested that some changes in bipolar disorder (BP) might be neurodevelopmental in origin. We applied a novel analysis of cortical complexity based on fractal dimensions in high-resolution structural MRI scans of 18 bipolar disorder patients and 26 healthy controls. Our region-of-interest based analysis revealed increases in fractal dimensions (in patients relative to controls) in left lateral orbitofrontal cortex and right precuneus, and decreases in right caudal middle frontal, entorhinal cortex, and right pars orbitalis, and left fusiform and posterior cingulate cortices...
February 21, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28322827/structural-divergence-of-essential-triad-ribbon-synapse-proteins-among-placental-mammals-implications-for-preclinical-trials-in-photoreceptor-transplantation-therapy
#3
Christopher R J Laver, Joanne A Matsubara
As photoreceptor transplantation rapidly moves closer to the clinic, verifying graft efficacy in animal models may have unforeseen xenogeneic barriers. Although photoreceptor transplants have most convincingly exhibited functional synaptogenesis in conspecific studies, such evidence (while ruling out false-positives due to: viral graft labeling, fusion/cytosolic transfer, or neuroprotection) has not yet been shown for discordant xenografts. From this, a fundamental question should be raised: is useful xenosynaptogenesis likely between human photoreceptors and mouse retina? The triad ribbon synapse (TRS) that would normally form is unique and contains trans-synaptic proteins essential to its formation and function...
March 18, 2017: Experimental Eye Research
https://www.readbyqxmd.com/read/28322279/pluripotent-stem-cells-in-neuropsychiatric-disorders
#4
REVIEW
M A Soliman, F Aboharb, N Zeltner, L Studer
Neuropsychiatric disorders place an enormous medical burden on patients across all social and economic ranks. The current understanding of the molecular and cellular causes of neuropsychiatric disease remains limited, which leads to a lack of targeted therapies. Human-induced pluripotent stem cell (iPSC) technology offers a novel platform for modeling the genetic contribution to mental disorders and yields access to patient-specific cells for drug discovery and personalized medicine. Here, we review recent progress in using iPSC technology to model and potentially treat neuropsychiatric disorders by focusing on the most prevalent conditions in psychiatry, including depression, anxiety disorders, bipolar disorder and schizophrenia...
March 21, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28321286/crispr-cas9-mediated-heterozygous-knockout-of-the-autism-gene-chd8-and-characterization-of-its-transcriptional-networks-in-cerebral-organoids-derived-from-ips-cells
#5
Ping Wang, Ryan Mokhtari, Erika Pedrosa, Michael Kirschenbaum, Can Bayrak, Deyou Zheng, Herbert M Lachman
BACKGROUND: CHD8 (chromodomain helicase DNA-binding protein 8), which codes for a member of the CHD family of ATP-dependent chromatin-remodeling factors, is one of the most commonly mutated genes in autism spectrum disorders (ASD) identified in exome-sequencing studies. Loss of function mutations in the gene have also been found in schizophrenia (SZ) and intellectual disabilities and influence cancer cell proliferation. We previously reported an RNA-seq analysis carried out on neural progenitor cells (NPCs) and monolayer neurons derived from induced pluripotent stem (iPS) cells that were heterozygous for CHD8 knockout (KO) alleles generated using CRISPR-Cas9 gene editing...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28295013/impact-of-familial-loading-on-prefrontal-activation-in-major-psychiatric-disorders-a-near-infrared-spectroscopy-nirs-study
#6
Kazutaka Ohi, Takamitsu Shimada, Hiroaki Kihara, Toshiki Yasuyama, Kazuyuki Sawai, Yukihisa Matsuda, Kazuaki Oshima, Hiroaki Okubo, Yusuke Nitta, Takashi Uehara, Yasuhiro Kawasaki
Family history (FH) is predictive of the development of major psychiatric disorders (PSY). Familial psychiatric disorders are largely a consequence of genetic factors and typically exhibit more severe impairments. Decreased prefrontal activity during verbal fluency testing (VFT) may constitute an intermediate phenotype for PSY. We investigated whether familial PSY were associated with a greater severity of prefrontal dysfunction in accordance with genetic loading. We measured prefrontal activity during VFT using near-infrared spectroscopy (NIRS) in patients with schizophrenia (SCZ, n = 45), major depressive disorder (MDD, n = 26) or bipolar disorder (BIP, n = 22) and healthy controls (HC, n = 51)...
March 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28289475/combined-genome-wide-linkage-and-targeted-association-analysis-of-head-circumference-in-autism-spectrum-disorder-families
#7
M Woodbury-Smith, D A Bilder, J Morgan, L Jerominski, T Darlington, T Dyer, A D Paterson, H Coon
BACKGROUND: It has long been recognized that there is an association between enlarged head circumference (HC) and autism spectrum disorder (ASD), but the genetics of HC in ASD is not well understood. In order to investigate the genetic underpinning of HC in ASD, we undertook a genome-wide linkage study of HC followed by linkage signal targeted association among a sample of 67 extended pedigrees with ASD. METHODS: HC measurements on members of 67 multiplex ASD extended pedigrees were used as a quantitative trait in a genome-wide linkage analysis...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28289279/next-gen-sequencing-identifies-non-coding-variation-disrupting-mirna-binding-sites-in-neurological-disorders
#8
P Devanna, X S Chen, J Ho, D Gajewski, S D Smith, A Gialluisi, C Francks, S E Fisher, D F Newbury, S C Vernes
Understanding the genetic factors underlying neurodevelopmental and neuropsychiatric disorders is a major challenge given their prevalence and potential severity for quality of life. While large-scale genomic screens have made major advances in this area, for many disorders the genetic underpinnings are complex and poorly understood. To date the field has focused predominantly on protein coding variation, but given the importance of tightly controlled gene expression for normal brain development and disorder, variation that affects non-coding regulatory regions of the genome is likely to play an important role in these phenotypes...
March 14, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28283021/gain-of-power-of-the-general-regression-model-compared-to-cochran-armitage-trend-tests-simulation-study-and-application-to-bipolar-disorder
#9
Marie-Hélène Dizier, Florence Demenais, Flavie Mathieu
BACKGROUND: Most genome-wide association studies assumed an additive model of inheritance which may result in significant loss of power when there is a strong departure from additivity. The General Regression Model (GRM), which allows performing an assumption-free test for association by testing for both additive effect and deviation from additive effect, may be more appropriate for association tests. Additionally, GRM allows testing the underlying genetic model. We compared the power of GRM association test to additive and other Cochran-Armitage Trend (CAT) tests through simulations and by applying GRM to a large case/control sample, the bipolar Welcome Trust Case Control Cohort data...
March 10, 2017: BMC Genetics
https://www.readbyqxmd.com/read/28282074/-epigenetics-2-0-the-multiple-faces-of-the-genome
#10
Marcelo Rubinstein
Epigenetics is the branch of genetics that studies the dynamic relationship between stable genotypes and varying phenotypes. To this end, epigenetics aims to discover the molecular mechanisms that explain how different nutrients and hormones, environmental changes, and emotional, social and cognitive experiences modify gene expression and behaviors, even permanently so. Psychiatry has learned that diseases with strong genetic predisposition, such as schizophrenia, show a concordance of around 50% between monozygotic twins, thus evidencing the importance of the genetic background and the presence of environmental variables that stimulate or block phenotypic development...
September 2016: Vertex: Revista Argentina de Psiquiatriá
https://www.readbyqxmd.com/read/28277568/neurodevelopmental-perspectives-on-wnt-signaling-in-psychiatry
#11
REVIEW
Kimberly A Mulligan, Benjamin N R Cheyette
Mounting evidence indicates that Wnt signaling is relevant to pathophysiology of diverse mental illnesses including schizophrenia, bipolar disorder, and autism spectrum disorder. In the 35 years since Wnt ligands were first described, animal studies have richly explored how downstream Wnt signaling pathways affect an array of neurodevelopmental processes and how their disruption can lead to both neurological and behavioral phenotypes. Recently, human induced pluripotent stem cell (hiPSC) models have begun to contribute to this literature while pushing it in increasingly translational directions...
February 2017: Molecular Neuropsychiatry
https://www.readbyqxmd.com/read/28277566/positive-traits-in-the-bipolar-spectrum-the-space-between-madness-and-genius
#12
REVIEW
Tiffany A Greenwood
Bipolar disorder is a severe, lifelong mood disorder for which little is currently understood of the genetic mechanisms underlying risk. By examining related dimensional phenotypes, we may further our understanding of the disorder. Creativity has a historical connection with the bipolar spectrum and is particularly enhanced among unaffected first-degree relatives and those with bipolar spectrum traits. This suggests that some aspects of the bipolar spectrum may confer advantages, while more severe expressions of symptoms negatively influence creative accomplishment...
February 2017: Molecular Neuropsychiatry
https://www.readbyqxmd.com/read/28275544/polygenic-risk-for-five-psychiatric-disorders-and-cross-disorder-and-disorder-specific-neural-connectivity-in-two-independent-populations
#13
Tianqi Wang, Xiaolong Zhang, Ang Li, Meifang Zhu, Shu Liu, Wen Qin, Jin Li, Chunshui Yu, Tianzi Jiang, Bing Liu
Major psychiatric disorders, including attention deficit hyperactivity disorder (ADHD), autism (AUT), bipolar disorder (BD), major depressive disorder (MDD), and schizophrenia (SZ), are highly heritable and polygenic. Evidence suggests that these five disorders have both shared and distinct genetic risks and neural connectivity abnormalities. To measure aggregate genetic risks, the polygenic risk score (PGRS) was computed. Two independent general populations (N = 360 and N = 323) were separately examined to investigate whether the cross-disorder PGRS and PGRS for a specific disorder were associated with individual variability in functional connectivity...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28275106/transfer-of-disrupted-in-schizophrenia-1-aggregates-between-neuronal-like-cells-occurs-in-tunnelling-nanotubes-and-is-promoted-by-dopamine
#14
Seng Zhu, Saïda Abounit, Carsten Korth, Chiara Zurzolo
The disrupted-in-schizophrenia 1 (DISC1) gene was identified as a genetic risk factor for chronic mental illnesses (CMI) such as schizophrenia, bipolar disorder and severe recurrent depression. Insoluble aggregated DISC1 variants were found in the cingular cortex of sporadic, i.e. non-genetic, CMI patients. This suggests protein pathology as a novel, additional pathogenic mechanism, further corroborated in a recent transgenic rat model presenting DISC1 aggregates. Since the potential role of aggregation of DISC1 in sporadic CMI is unknown, we investigated whether DISC1 undergoes aggregation in cell culture and could spread between neuronal cells in a prion-like manner, as shown for amyloid proteins in neurodegenerative diseases...
March 2017: Open Biology
https://www.readbyqxmd.com/read/28272115/further-evidence-for-genetic-variation-at-the-serotonin-transporter-gene-slc6a4-contributing-toward-anxiety
#15
Andreas J Forstner, Stefanie Rambau, Nina Friedrich, Kerstin U Ludwig, Anne C Böhmer, Elisabeth Mangold, Anna Maaser, Timo Hess, Alexandra Kleiman, Antje Bittner, Markus M Nöthen, Jessica Becker, Franziska Geiser, Johannes Schumacher, Rupert Conrad
OBJECTIVES: Social anxiety disorder (SAD) is a common and heritable psychiatric disorder. However, genetic studies in SAD are rare and only a few candidate genes have been implicated so far. In the present study, we investigated whether single-nucleotide polymorphisms (SNPs) associated with other psychiatric disorders also contribute toward the development of SAD and followed up variants associated with SAD on the phenotypic level. PATIENTS AND METHODS: We genotyped a total of 24 SNPs in a German sample of 321 SAD patients and 804 controls...
March 7, 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/28271741/the-preclinical-discovery-and-development-of-quetiapine-for-the-treatment-of-mania-and-depression
#16
Aline Silva de Miranda, Fabrício A Moreira, Antônio Lúcio Teixeira
Bipolar disorder is a chronic disabling condition characterized by alternating manic and depressive episodes. Bipolar disorder has been associated with functional impairment, poor quality of life, morbidity and mortality. Despite its significant clinical, social and economic burden, treatment options for bipolar disorder are still limited. Several clinical trials have shown efficacy of the atypical antipsychotic quetiapine (QTP) in the treatment of this condition. However, the mechanisms underlying the antidepressant and anti-manic effects of QTP remain poorly understood...
March 14, 2017: Expert Opinion on Drug Discovery
https://www.readbyqxmd.com/read/28264500/geneanalytics-pathway-analysis-and-genetic-overlap-among-autism-spectrum-disorder-bipolar-disorder-and-schizophrenia
#17
Naveen S Khanzada, Merlin G Butler, Ann M Manzardo
Bipolar disorder (BPD) and schizophrenia (SCH) show similar neuropsychiatric behavioral disturbances, including impaired social interaction and communication, seen in autism spectrum disorder (ASD) with multiple overlapping genetic and environmental influences implicated in risk and course of illness. GeneAnalytics software was used for pathway analysis and genetic profiling to characterize common susceptibility genes obtained from published lists for ASD (792 genes), BPD (290 genes) and SCH (560 genes). Rank scores were derived from the number and nature of overlapping genes, gene-disease association, tissue specificity and gene functions subdivided into categories (e...
February 28, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28262145/predictors-of-metabolic-syndrome-in-first-manic-episode
#18
Sermin Kesebir, Boray Erdinç, Nevzat Tarhan
OBJECTIVE: In the present study we aimed to investigate, whether an association between metabolic syndrome (MetS) and clinical features and affective temperaments exists or not in first manic episode of bipolar disorder (BD) and to clarify the prevalence and predictors of MetS. METHOD: A total of 150 patients who were received a diagnosis of bipolar disorder type I according to DSM-IV criteria and who were experiencing their first manic episode (FME) were screened consecutively for inclusion...
February 2017: Asian Journal of Psychiatry
https://www.readbyqxmd.com/read/28242870/neurons-derived-from-patients-with-bipolar-disorder-divide-into-intrinsically-different-sub-populations-of-neurons-predicting-the-patients-responsiveness-to-lithium
#19
S Stern, R Santos, M C Marchetto, A P D Mendes, G A Rouleau, S Biesmans, Q-W Wang, J Yao, P Charnay, A G Bang, M Alda, F H Gage
Bipolar disorder (BD) is a progressive psychiatric disorder with more than 3% prevalence worldwide. Affected individuals experience recurrent episodes of depression and mania, disrupting normal life and increasing the risk of suicide greatly. The complexity and genetic heterogeneity of psychiatric disorders have challenged the development of animal and cellular models. We recently reported that hippocampal dentate gyrus (DG) neurons differentiated from induced pluripotent stem cell (iPSC)-derived fibroblasts of BD patients are electrophysiologically hyperexcitable...
February 28, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28238272/psychiatric-presentations-of-c9orf72-mutation-what-are-the-diagnostic-implications-for-clinicians
#20
Simon Ducharme, Sepideh Bajestan, Bradford C Dickerson, Valerie Voon
The C9orf72 mutation was identified as the most frequent genetic cause of frontotemporal dementia (FTD). In light of multiple reports of predominant psychiatric presentations of FTD secondary to C9orf72 mutation, the American Neuropsychiatric Association Committee on Research reviewed all studies on psychiatric aspects of this mutation to identify clinically relevant features for diagnosis. The most common psychiatric presentation is psychosis (21%-56%), with delusions, and/or multimodal hallucinations. Other presentations include late-onset mania and depression with cognitive impairment or catatonia...
February 27, 2017: Journal of Neuropsychiatry and Clinical Neurosciences
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